Series 1: The Use of <i>hsp</i>65- and <i>erm</i>(41)-Targeted Amplicon Sequencing in the Diagnostic Workflow for Non-Tuberculous Mycobacteria

Evolving technologies available to clinical laboratories and laboratory-related updates to clinical guidelines both drive the need for clinical laboratories to keep their test menu updated and in line with current technological and clinical developments. Our laboratory has developed a targeted Illum...

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Main Authors: Tracy Lee, Adriana Cabrera, Kathleen Kolehmainen, Trevor Hird, Danielle Jorgensen, Alan O’Dwyer, Dan Fornika, Rupinder Kaur KhunKhun, Mabel Rodrigues, Natalie Prystajecky, John Tyson, Inna Sekirov, James E. A. Zlosnik
Format: Article
Language:English
Published: MDPI AG 2025-07-01
Series:Tropical Medicine and Infectious Disease
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Online Access:https://www.mdpi.com/2414-6366/10/7/192
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author Tracy Lee
Adriana Cabrera
Kathleen Kolehmainen
Trevor Hird
Danielle Jorgensen
Alan O’Dwyer
Dan Fornika
Rupinder Kaur KhunKhun
Mabel Rodrigues
Natalie Prystajecky
John Tyson
Inna Sekirov
James E. A. Zlosnik
author_facet Tracy Lee
Adriana Cabrera
Kathleen Kolehmainen
Trevor Hird
Danielle Jorgensen
Alan O’Dwyer
Dan Fornika
Rupinder Kaur KhunKhun
Mabel Rodrigues
Natalie Prystajecky
John Tyson
Inna Sekirov
James E. A. Zlosnik
author_sort Tracy Lee
collection DOAJ
description Evolving technologies available to clinical laboratories and laboratory-related updates to clinical guidelines both drive the need for clinical laboratories to keep their test menu updated and in line with current technological and clinical developments. Our laboratory has developed a targeted Illumina-based amplicon next-generation sequencing (NGS) assay to interrogate the <i>hsp</i>65 and <i>erm(</i>41) genes of <i>Mycobacterium</i> spp. for the purposes of providing species-level ± subspecies-level identification of <i>Mycobacterium</i> spp. organisms in clinical samples and genotypic predictions for inducible macrolide resistance (in the case of <i>M. abscessus</i> complex members). The developed assay demonstrated 100% sensitivity and specificity for <i>M. tuberculosis</i> and <i>M. abscessus</i> complex cultured organisms, 98% ID overall concordance relative to the available reference identification, and a nearly 60% “rescue” rate for primary samples that could not be identified using our previous method. There was 94.6% concordance between genotypic and phenotypic results for inducible macrolide resistance. The developed assay was successfully implemented in our clinical laboratory and has been accredited for clinical use.
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spelling doaj-art-63ad3b7155864b4d9770da1f4faaf7f52025-08-20T02:47:10ZengMDPI AGTropical Medicine and Infectious Disease2414-63662025-07-0110719210.3390/tropicalmed10070192Series 1: The Use of <i>hsp</i>65- and <i>erm</i>(41)-Targeted Amplicon Sequencing in the Diagnostic Workflow for Non-Tuberculous MycobacteriaTracy Lee0Adriana Cabrera1Kathleen Kolehmainen2Trevor Hird3Danielle Jorgensen4Alan O’Dwyer5Dan Fornika6Rupinder Kaur KhunKhun7Mabel Rodrigues8Natalie Prystajecky9John Tyson10Inna Sekirov11James E. A. Zlosnik12British Columbia Centre for Disease Control, Public Health Laboratory, Vancouver, BC V6Z R4R, CanadaBritish Columbia Centre for Disease Control, Public Health Laboratory, Vancouver, BC V6Z R4R, CanadaBritish Columbia Centre for Disease Control, Public Health Laboratory, Vancouver, BC V6Z R4R, CanadaBritish Columbia Centre for Disease Control, Public Health Laboratory, Vancouver, BC V6Z R4R, CanadaBritish Columbia Centre for Disease Control, Public Health Laboratory, Vancouver, BC V6Z R4R, CanadaBritish Columbia Centre for Disease Control, Public Health Laboratory, Vancouver, BC V6Z R4R, CanadaBritish Columbia Centre for Disease Control, Public Health Laboratory, Vancouver, BC V6Z R4R, CanadaBritish Columbia Centre for Disease Control, Public Health Laboratory, Vancouver, BC V6Z R4R, CanadaBritish Columbia Centre for Disease Control, Public Health Laboratory, Vancouver, BC V6Z R4R, CanadaBritish Columbia Centre for Disease Control, Public Health Laboratory, Vancouver, BC V6Z R4R, CanadaBritish Columbia Centre for Disease Control, Public Health Laboratory, Vancouver, BC V6Z R4R, CanadaBritish Columbia Centre for Disease Control, Public Health Laboratory, Vancouver, BC V6Z R4R, CanadaBritish Columbia Centre for Disease Control, Public Health Laboratory, Vancouver, BC V6Z R4R, CanadaEvolving technologies available to clinical laboratories and laboratory-related updates to clinical guidelines both drive the need for clinical laboratories to keep their test menu updated and in line with current technological and clinical developments. Our laboratory has developed a targeted Illumina-based amplicon next-generation sequencing (NGS) assay to interrogate the <i>hsp</i>65 and <i>erm(</i>41) genes of <i>Mycobacterium</i> spp. for the purposes of providing species-level ± subspecies-level identification of <i>Mycobacterium</i> spp. organisms in clinical samples and genotypic predictions for inducible macrolide resistance (in the case of <i>M. abscessus</i> complex members). The developed assay demonstrated 100% sensitivity and specificity for <i>M. tuberculosis</i> and <i>M. abscessus</i> complex cultured organisms, 98% ID overall concordance relative to the available reference identification, and a nearly 60% “rescue” rate for primary samples that could not be identified using our previous method. There was 94.6% concordance between genotypic and phenotypic results for inducible macrolide resistance. The developed assay was successfully implemented in our clinical laboratory and has been accredited for clinical use.https://www.mdpi.com/2414-6366/10/7/192non-tuberculous mycobacteriaidentificationspeciationnext-generation sequencingmolecular resistance
spellingShingle Tracy Lee
Adriana Cabrera
Kathleen Kolehmainen
Trevor Hird
Danielle Jorgensen
Alan O’Dwyer
Dan Fornika
Rupinder Kaur KhunKhun
Mabel Rodrigues
Natalie Prystajecky
John Tyson
Inna Sekirov
James E. A. Zlosnik
Series 1: The Use of <i>hsp</i>65- and <i>erm</i>(41)-Targeted Amplicon Sequencing in the Diagnostic Workflow for Non-Tuberculous Mycobacteria
Tropical Medicine and Infectious Disease
non-tuberculous mycobacteria
identification
speciation
next-generation sequencing
molecular resistance
title Series 1: The Use of <i>hsp</i>65- and <i>erm</i>(41)-Targeted Amplicon Sequencing in the Diagnostic Workflow for Non-Tuberculous Mycobacteria
title_full Series 1: The Use of <i>hsp</i>65- and <i>erm</i>(41)-Targeted Amplicon Sequencing in the Diagnostic Workflow for Non-Tuberculous Mycobacteria
title_fullStr Series 1: The Use of <i>hsp</i>65- and <i>erm</i>(41)-Targeted Amplicon Sequencing in the Diagnostic Workflow for Non-Tuberculous Mycobacteria
title_full_unstemmed Series 1: The Use of <i>hsp</i>65- and <i>erm</i>(41)-Targeted Amplicon Sequencing in the Diagnostic Workflow for Non-Tuberculous Mycobacteria
title_short Series 1: The Use of <i>hsp</i>65- and <i>erm</i>(41)-Targeted Amplicon Sequencing in the Diagnostic Workflow for Non-Tuberculous Mycobacteria
title_sort series 1 the use of i hsp i 65 and i erm i 41 targeted amplicon sequencing in the diagnostic workflow for non tuberculous mycobacteria
topic non-tuberculous mycobacteria
identification
speciation
next-generation sequencing
molecular resistance
url https://www.mdpi.com/2414-6366/10/7/192
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